Variant report

Variant	rs11989002
Chromosome Location	chr8:61634534-61634535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61630639..61633398-chr8:61633883..61636594,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10808712	0.90[YRI][hapmap]
rs10957153	0.92[CHD][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs16926382	0.96[CHD][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap]
rs6981399	0.96[CHD][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs6987676	0.87[ASN][1000 genomes]
rs6994642	0.92[TSI][hapmap]
rs7816621	0.90[YRI][hapmap]
rs9643371	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61621600-61636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:61623200-61635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:61626600-61636000	Weak transcription	Fetal Lung	lung
7	chr8:61627400-61636000	Weak transcription	Spleen	Spleen
8	chr8:61627600-61634800	Weak transcription	Fetal Intestine Large	intestine
9	chr8:61627600-61636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:61627600-61637200	Weak transcription	HMEC	breast
11	chr8:61627800-61638200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
13	chr8:61628200-61636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:61628800-61634600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:61628800-61636400	Weak transcription	Hela-S3	cervix
16	chr8:61628800-61636600	Weak transcription	NHEK	skin
17	chr8:61629000-61635800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:61629000-61636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:61629000-61636000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:61629000-61637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:61630200-61637400	Weak transcription	Stomach Mucosa	stomach
22	chr8:61630800-61635200	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:61631400-61637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:61631400-61638200	Weak transcription	A549	lung
25	chr8:61631600-61634800	Enhancers	Right Atrium	heart
26	chr8:61631800-61636400	Weak transcription	Pancreas	Pancrea
27	chr8:61631800-61637600	Weak transcription	Gastric	stomach
28	chr8:61632200-61634600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:61632200-61634800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:61632200-61634800	Enhancers	Left Ventricle	heart
31	chr8:61632200-61635000	Enhancers	Brain Anterior Caudate	brain
32	chr8:61632400-61637600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:61632800-61635200	Enhancers	Brain Substantia Nigra	brain
34	chr8:61633200-61634800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:61633200-61634800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:61633200-61635000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:61633200-61635000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:61633200-61635000	Enhancers	Duodenum Mucosa	Duodenum
39	chr8:61633200-61636200	Weak transcription	Primary B cells from cord blood	blood
40	chr8:61633400-61636000	Weak transcription	Small Intestine	intestine
41	chr8:61633400-61636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:61633400-61636400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:61633600-61634600	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:61633600-61635000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:61633600-61635400	Weak transcription	Fetal Heart	heart
46	chr8:61633600-61636000	Weak transcription	Brain Germinal Matrix	brain
47	chr8:61633600-61636000	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:61633600-61636000	Weak transcription	Psoas Muscle	Psoas
49	chr8:61633600-61636400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:61633800-61634600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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